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Deletions with inversions: Report of a mutation and review of the literature

 

作者: Rhett P. Ketterling,   Darrell O. Ricke,   Mark W. Wurster,   Steve S. Sommer,  

 

期刊: Human Mutation  （WILEY Available online 1993）
卷期: Volume 2, issue 1  

页码: 53-57

 

ISSN:1059-7794

 

年代: 1993

 

DOI:10.1002/humu.1380020110

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: Hemophilia B/Factor IX;Germline mutation;Deletion junction;Inversion junction

 

数据来源: WILEY

 

摘要:

AbstractHerein we report a 10.9 kb deletion and a 95 bp inversion in a patient with severe hemophilia B (factor IXHB209). With the addition of factor IXHB209, three of six characterized deletions in the factor IX gene are now known to include inversions. A high frequency of combined deletions and inversions has not previously been described in a human gene. © 1993 Wiley‐Liss, I

 

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